Term Name: | cataract 1 multiple types |
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Synonyms: | CAE1, cataract 1, multiple types, with or without microcornea, CTRCT1, CZP1, Duffy linked cataract, zonular pulverulent cataract 1 |
Definition: | A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. |
Ontology: | Human Disease [DOID:0110231] ( DOID:0110231 ) |